5C55.00 Xanthinuria

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2026-01

Xanthinuria is a rare autosomal recessive disorder associated with a deficiency in xanthine dehydrogenase (XDH - also referred to as xanthine oxidoreductase, XOR), which normally catalyses the conversion of hypoxanthine and xanthine to uric acid. In humans NAD+ is the electron acceptor and significant activity is confined to liver and intestinal mucosa. Irreversible conversion to oxidase occurs during ischaemia. The preferential accumulation/excretion of xanthine in plasma and urine results from extensive hypoxanthine recycling by the salvage pathway for which xanthine is not a substrate in humans: excess xanthine deriving from guanine via guanine deaminase.

synonyms

• Xanthinuria
• Classical xanthinuria
• Xanthic urolithiasis
• Xanthine stone disease
• xanthine calculus
• Xanthinuria type 1
• Isolated hereditary xanthinuria
• Isolated xanthine dehydrogenase deficiency
• Isolated xanthine oxidase deficiency
• Isolated xanthine oxidoreductase deficiency
• hereditary xanthinuria
• Xanthinuria type 2
• Xanthine dehydrogenase and xanthine aldehyde oxydase dual deficiency

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